{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829500104",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "referenceAllele": "A",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004002.3:p.Ala1258Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412656715",
          "hgvs": "NM_004011.4:c.3772G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709517"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=959247[alleleid]",
        "alleleId": 959247,
        "preferredName": "NM_004006.3(DMD):c.7795G>A (p.Ala2599Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/965816",
        "RCV": [
          "RCV001240351",
          "RCV001828948",
          "RCV004034647"
        ],
        "variationId": 965816
      }
    ]
  },
  "type": "amino-acid"
}